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Characterisation of the astrocytic function in megalencephalic leukoencephalopathy

14th national competition for scientific and technical research

Rare diseases

Senior Researcher : Raúl Estévez Povedano

Research Centre or Institution : Instituto de Investigaciones Biomédicas de Bellvitge-Universidad de Barcelona.


MLC1 mutations cause megalencephalic leukoencephalopathy with subcortical cysts (MLC), clinically characterised by an abnormally large head, loss of motor functions, epilepsy and moderate mental retardation. Although our studies have revealed the location of the MLC1 protein, the physiological role of MLC1 in the brain remains unknown, in addition to how its loss causes the disease.

Fine localisation studies carried out on cultured nerve cells have enabled us to demonstrate that MLC1 appears in contact structures between astrocytes, similar to the closed unions found in epithelial cells. This localisation suggests that the role of MLC1 in astrocytes could be important for maintaining hematoencephalic barrier properties.

This research project is aimed at discovering the role of MLC1 in astrocyte physiology. We believe that this study will be key to understanding the physiopathology of megalencephalic leukoencephalopathy, and extremely useful for designing future therapies for patients affected by this rare disease.

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